PMID- 8585567
OWN - NLM
STAT- MEDLINE
DCOM- 19960319
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 59
IP  - 4
DP  - 1995 Dec 4
TI  - Partial monosomy of chromosome 1p36.3: characterization of the critical region 
      and delineation of a syndrome.
PG  - 467-75
AB  - We describe 5 patients ranging in age from 3 to 47 years, with karyotypic 
      abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental 
      retardation, prominent forehead, deep-set eyes, depressed nasal bridge, flat 
      midface, relative prognathism, and abnormal ears. Four patients have small hands 
      and feet. All exhibited self-abusive behavior. Additional findings in some of the 
      patients include brain anomalies, optic atrophy, hearing loss and skeletal 
      deformities. The breakpoints within chromosome 1 were designated at 1p36.33 (1 
      case). Thus, the smallest region of deletion overlap is 1p36.33-->1pter. 
      Detection of the abnormal 1 relied on high resolution G-band analysis. 
      Fluorescence in situ hybridization (FISH) utilizing a DNA probe (Oncor D1Z2) 
      containing the repetitive sequences in distal 1p36, confirmed a deletion of one 1 
      homologue in all 5 cases. The abnormal 1 resulted from a de novo deletion in only 
      one patient. The remaining patients were either confirmed (3 cases) or suspected 
      (1 case) to have unbalanced translocations. Despite the additional genetic 
      imbalance present in these four cases, monosomy of 1p36.33 appears to be 
      responsible for a specific clinical phenotype. Characterization of this phenotype 
      should assist in the clinical diagnosis of this chromosome abnormality.
FAU - Reish, O
AU  - Reish O
AD  - Department of Pediatrics, University of Minnesota, Minneapolis, USA.
FAU - Berry, S A
AU  - Berry SA
FAU - Hirsch, B
AU  - Hirsch B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 1
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Monosomy
MH  - Phenotype
MH  - Syndrome
EDAT- 1995/12/04 00:00
MHDA- 1995/12/04 00:01
CRDT- 1995/12/04 00:00
PHST- 1995/12/04 00:00 [pubmed]
PHST- 1995/12/04 00:01 [medline]
PHST- 1995/12/04 00:00 [entrez]
AID - 10.1002/ajmg.1320590413 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Dec 4;59(4):467-75. doi: 10.1002/ajmg.1320590413.